Genetic diseases

Can you name the genetic diseases?

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maternal chromosome 15 inactive (imprinting)
paternal chromosome 15 inactive (imprinting)
trisomy 21
trisomy 18
trisomy 13
45, x (women)
47, xxy (men)
22q11.2 deletion syndrome
chromosome 7 deletion
metabolic autosomal recessive, guthrie test, pleiotropy
variable expressivity, heart, skeleton, or eye problems, autosomal dominant
autosomal dominant, CAG repeats, polyglutamine
autosomal dominant, dwarfism
HintAnswer
autosomal dominant, LDLR
x-linked dominant, affects girls, de novo mutations, neurodevelopmental
x-linked recessive, joint and muscle hemorrhage, often de novo
x-linked recessive, muscle degeneration
hemoglobinopathy, recessive, polymerization of mutant hemoglobin
autosomal dominant, variable expressivity, sudden death often 1st symptom
sudden death, dominant or recessive, mutations in cardiac muscle repolarization
autosomal recessive, celtic curse, increased absorption of Fe from the gut, low penetrance
autosomal dominant, incomplete penetrance, hypercoagulable state
reduced synthesis of beta globin, no symptoms
homozygotes or compound heterozygotes for beta globin mutant alleles
x-linked recessive but affects females, triggered by fava beans and antimalarial drugs
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Last Updated: Feb 16, 2017

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